NM_000191.3(HMGCL):c.168A>G (p.Lys56=) AND Deficiency of hydroxymethylglutaryl-CoA lyase
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001421878.6
Allele description
NM_000191.3(HMGCL):c.168A>G (p.Lys56=)
Condition(s)
- Name:
- Deficiency of hydroxymethylglutaryl-CoA lyase (HMGCLD)
- Synonyms:
- HMG CoA lyase deficiency; Defect in leucine metabolism; 3-hydroxy-3-methylglutaric aciduria; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009520; MedGen: C0268601; Orphanet: 20; OMIM: 246450
Assertion and evidence details
Last Updated: Mar 30, 2024